12-49962154-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001651.4(AQP5):c.137C>T(p.Ala46Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,460,354 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001651.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP5 | ENST00000293599.7 | c.137C>T | p.Ala46Val | missense_variant | Exon 1 of 4 | 1 | NM_001651.4 | ENSP00000293599.5 | ||
AQP5-AS1 | ENST00000550214.1 | n.258+513G>A | intron_variant | Intron 1 of 1 | 2 | |||||
AQP5-AS1 | ENST00000550530.1 | n.117+513G>A | intron_variant | Intron 1 of 2 | 3 | |||||
AQP5-AS1 | ENST00000552379.1 | n.256+513G>A | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249268Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135252
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460354Hom.: 0 Cov.: 29 AF XY: 0.00000551 AC XY: 4AN XY: 726542
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.137C>T (p.A46V) alteration is located in exon 1 (coding exon 1) of the AQP5 gene. This alteration results from a C to T substitution at nucleotide position 137, causing the alanine (A) at amino acid position 46 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at